A Case of VATER association Variant with a 46, XY, inv (6)(q11q16) Inversion

Park, Dong Ho; Jung, Dae Bong; Yang, Eun Seok; Park, Yeong Bong; Park, Sang Kee

Abstract

VATER association of vertebral defects, imperforate anus, tracheoesophageal (T-E) fistula with esiphageal atresia, and radial and renal dysplasia are utilized to identify this complex. Other anomalies are vascular anomalies (cardiac defects and single umbilical artery), and prenatal and postnatal growth deficiency, defects of external genital and urinary tract as well as bone defects (preaxial lower extremity anomalies, supernumerary digits, rib anomaly). This pattern of malformation generally occurs sporadically in an otherwise normal family, and may occur as a part of a broader pattern, such as the trisomy 18, del (4p, 6q, and 13q) syndromes, and sirenomelia. As inversion of chromosome does not lose of genetic materials, phenotypic abnormalities does not occur. But rare cases have been reported. We report a neonate who had multiple congenital anomalies, including the VATER association defects associated with an unusual chromosomal abnormality, a paracentric inversion of chromosome 6 : 46, XY, .inv (6)(q11q16).